PAX2基因自发突变致肾⁃视神经盘缺损综合征一例  

A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2

作　　者：凌晨[1] 陈植[1] 刘小荣[1] LING Chen;CHEN Zhi;LIU Xiaorong(Department 1 of Nephrology,National Center for Children's Health,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]国家儿童医学中心、首都医科大学附属北京儿童医院肾病一科,北京100045

出　　处：《罕见病研究》2022年第3期325-328,共4页Journal of Rare Diseases

摘　　要：本文报道1例全长配对盒基因(PAX)家族中PAX2突变至肾⁃视神经盘缺损综合征的患儿。患儿男性,11岁10个月,临床表现持续泡沫尿伴不明原因的肾功能衰竭,患儿自幼出现视力下降。基因检测证实PAX2剪切位点突变(c.862⁃1G>A),Sanger测序验证显示患儿父母该位点均无变异,属于自发突变,结合临床表现符合肾⁃视神经盘缺损综合征诊断。PAX2突变是导致该患儿进展至终末期肾病及肾外表现的原因。This article reports a case of a child with full⁃length(paired box family,PAX)PAX2 mutation leading to renal coloboma syndrome.The patient is an 11⁃year⁃old boy presented with persistent foamy urine and unexplained renal failure.The boy has suffered from vision decline ever since infancy.Genetic testing confirms the mutation of the PAX2 splice site(c.862⁃1G>A).Sanger sequencing shows no mutation at this site in his parents and demonstrates a spontaneous mutation.His clinical manifestations also confirms diagnosis of renal coloboma syndrome.The PAX2 mutation was responsible for the boy's progression to end⁃stage renal disease and extrarenal manifestations.

关 键 词：肾⁃视神经盘缺损综合征 PAX2基因 牵牛花征 儿童 

分 类 号：R726.9[医药卫生—儿科]